Detalhe da pesquisa
1.
HINT1 neuropathy: Expanding the genotype and phenotype spectrum.
Clin Genet
; 102(5): 379-390, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35882622
2.
Unexpected Intermediate Nerve Conduction Velocity Findings in Charcot-Marie-Tooth Syndromes Classified as Demyelinated or Axonal in a Pediatric Population.
Neuropediatrics
; 53(3): 182-187, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35297028
3.
CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer.
PLoS Comput Biol
; 16(2): e1007503, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32049956
4.
Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients.
Clin Endocrinol (Oxf)
; 93(3): 248-260, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32347971
5.
A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next-generation sequencing and review of the literature.
J Peripher Nerv Syst
; 24(1): 139-144, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30734407
6.
A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature.
J Peripher Nerv Syst
; 22(2): 77-84, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28448692
7.
Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.
J Med Genet
; 52(10): 681-90, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26246519
8.
Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy.
Ann Neurol
; 71(5): 719-23, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22522483
9.
CMT4D (NDRG1 mutation): genotype-phenotype correlations.
J Peripher Nerv Syst
; 18(3): 261-5, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24028195
10.
Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation.
J Peripher Nerv Syst
; 18(2): 181-4, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23781966
11.
The First Large Deletion of ATL3 Identified in a Patient Presenting with a Sensory Polyneuropathy.
Biomedicines
; 11(6)2023 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37371660
12.
From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene.
J Pers Med
; 12(2)2022 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35207700
13.
Early Diagnosis in Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS) by Focusing on Major Clinical Clues: Beyond Ataxia and Vestibular Impairment.
Biomedicines
; 10(8)2022 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36009593
14.
A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.
Genes (Basel)
; 13(2)2022 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35205364
15.
New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software.
Comput Struct Biotechnol J
; 19: 4265-4272, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34429846
16.
GDAP1 Involvement in Mitochondrial Function and Oxidative Stress, Investigated in a Charcot-Marie-Tooth Model of hiPSCs-Derived Motor Neurons.
Biomedicines
; 9(8)2021 Aug 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34440148
17.
Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients.
Ann Clin Transl Neurol
; 8(2): 471-476, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33405357
18.
One Multilocus Genomic Variation Is Responsible for a Severe Charcot-Marie-Tooth Axonal Form.
Brain Sci
; 10(12)2020 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33333791
19.
ATP7A mutation with occipital horns and distal motor neuropathy: A continuum.
Eur J Med Genet
; 63(12): 104087, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33137485
20.
A mutation can hide another one: Think Structural Variants!
Comput Struct Biotechnol J
; 18: 2095-2099, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32832037